Description: Pituitary dwarfism is a metabolic disorder characterized by a combined deficiency of growth hormone, thyroid-stimulating hormone (TSH), prolactin, and gonadotropins. Hormonal deficiencies can lead to a wide variety of clinical manifestations, but the most common are marked growth retardation, retention of lanugo or secondary hairs with concomitant lack of primary or protective hairs, and bilateral symmetric alopecia.
Inheritance: autosomal recessive
Mutation: c.622-37-31del (7bp del in intron 5 affects splice site) in LHX3 gene
Sample: EDTA whole blood (1.0 ml) or 2 buccal brushes. For official purposes, the confirmation of the dog’s identity by Veterinarian is recommended.
The analysis is suitable for the following breeds: German shepherds, Saarloos Wolfdogs, Czechoslovakian Wolfdogs, Tibetan Terrier (Thaiwong T. et al. 2021), White Swiss Shepherd Dog
Notes: analysis of mutation c.545_547dupACA can be ordered by agreement, it is not analyzed by default because of the low frequency